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Your search keyword '"Nicolas Chrestian"' showing total 3 results
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3 results on '"Nicolas Chrestian"'

1. Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Author

Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, and Myriam Srour

Subjects
PLPBP, PROSC, pyridoxine, B6, PLPHP, seizures, Neurology. Diseases of the nervous system, RC346-429
Abstract

PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with unusual paroxysmal episodes lacking EEG correlation with a suspicious movement disorder, rarely reported in B6RDs. In addition, we review the clinical features and treatment responses of all 51 previously published individuals with PLPHP deficiency. Our case series underlines the importance of considering PLPBP mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population.

Published
2022
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2. Case Report: Two Families With HPDL Related Neurodegeneration

Author

Ieva Micule, Baiba Lace, Nathan T. Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica, Nataly Laflamme, Nadie Rioux, Samarth Thonta Setty, Sander Pajusalu, Arnaud Droit, Monkol Lek, Serge Rivest, and Inna Inashkina

Subjects
spastic paraplegia, ataxia, citrate-synthase, mitochondrial diseases, brain diseases, Genetics, QH426-470
Abstract

There are recent reports of associations of variants in the HPDL gene with a hereditary neurological disease that presents with a wide spectrum of clinical severity, ranging from severe neonatal encephalopathy with no psychomotor development to adolescent-onset uncomplicated spastic paraplegia. Here, we report two probands from unrelated families presenting with severe and intermediate variations of the clinical course. A homozygous variant in the HPDL gene was detected in each proband; however, there was no known parental consanguinity. We also highlight reductions in citrate synthase and mitochondrial complex I activity detected in both probands in different tissues, reflecting the previously proposed mitochondrial nature of disease pathogenesis associated with HPDL mutations. Further, we speculate on the functional consequences of the detected variants, although the function and substrate of the HPDL enzyme are currently unknown.

Published
2022
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3. Adrenal insufficiency among children treated with hormonal therapy for infantile spasms

Author

Gabrielle Doré‐Brabant, Geneviève Laflamme, Maude Millette, Bradley Osterman, and Nicolas Chrestian

Subjects
Neurology, Adrenocorticotropic Hormone, Hydrocortisone, Adrenal Cortex Hormones, Prednisolone, Humans, Infant, Prednisone, Neurology (clinical), Child, Spasms, Infantile, Adrenal Insufficiency, Retrospective Studies
Abstract

Hormonal therapy is a standard treatment for children with infantile spasms. However, the high doses given and long treatment duration expose patients to the risk of adrenal insufficiency (AI). This study aims to quantify the cumulative incidence of AI among children with infantile spasms treated with high-dose corticosteroids and/or adrenocorticotropic hormone.A retrospective chart review of patients treated for infantile spasms was performed between January 2009 and March 2020 in one pediatric specialized hospital. Variables collected include patient and treatment characteristics, risk factors of AI, and adrenal function testing. Analysis included descriptive statistics such as incidence and bivariate analysis.Thirty-one patients were included and received a total of 33 courses of treatment (17 corticosteroids [prednisone/prednisolone], 12 adrenocorticotropic hormone, and four combined). Physiologic hydrocortisone replacement therapy with stress supplementation was received after 32 of 33 (97%) courses of treatment. Adrenal function was assessed in 32 of 33 (97%) and AI occurred in 25 of 33 (76%, 95% confidence interval = 58-89). No predictive factor of AI was identified after hormonal treatment. No drug regimen was found to be safe. The two patients who developed an acute adrenal crisis presented to the emergency room within the days (between 2 and 7) following weaning off of hormonal treatment. They were the youngest children of the cohort, and both received prednisolone.Adrenal insufficiency is frequent and can potentially lead to an adrenal crisis in this population. This study highlights the necessity of hydrocortisone replacement therapy until AI has been excluded in a patient who has received hormonal therapy to treat infantile spasms. As such, routine laboratory assessment of adrenal function should be done in all patients.

Published
2022

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